University of Colorado Autoimmune Neurology program director Dr. Amanda Piquet diagnosed Céline Dion with Stiff Person Syndrome. Piquet discussed Dion's condition in length.
"You can think about it as putting the brakes on the nervous system," Piquet explained about the condition to People. "So if you're not able to put the brakes on, you have symptoms of hyper excitability, muscle spasms."
As for Dion, she has since been suffering the symptoms in her throat and feet, which also causes her difficulty in breathing and walking. She also experiences visual loss and "crisis" episodes where her body becomes stiff and is hit with excruciating pain.
"Most people in their lives have experienced a charley horse in their calf. So imagine not just that muscle, but all the muscles in the body are involved, that can be extremely distressing and extremely painful," she elaborated. "It can last minutes to hours."
Piquet also explained why Dion's diagnosis came after 17 years since she started experiencing the symptoms.
"It's a hard disease to diagnose because it's not well recognized by the medical system. The common age of diagnosis is around 50," Piquet revealed, explaining why it was called a "progressive disease."
According to Piquet, Stiff Person Syndrome is a "rare" disease because it can look very similar to other conditions.
"So at first when the muscle spasms start, they tend to just come and go and it can mimic many other neurologic diseases," she furthered, adding that it can be mistakenly diagnosed as Parkinson's, too.
Sadly, a cure for Stiff Person Syndrome is nowhere to be found, and all patients can do is get treatment to alleviate the occurring symptoms.
"We don't have FDA-approved therapies for this disease. While we use these treatments, everything is off-label," Piquet confirmed. "I've certainly had patients that have clear improvements with these therapies, but we need clinical trials and research to tell us what truly is best."
However, because Dion publicly talked about her disease, Piquet is hopeful that interest in the funding grows, as 2 out of 100,000 people are fighting Stiff Person Syndrome.
"Between the awareness that we see with Céline bringing this to the general population and our epidemiology study, people are going to be interested in finding a cure and better treatments for this disease," Piquet hopefully shared. "We need to do better, and I think the research is coming. The future for SPS is bright and there's a lot on the horizon. And while we don't have a cure for this disease, there's definitely things that we can do to help manage the disease."
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